ArticleCroatian medical journal2015
Blind study evaluation illustrates utility of the Ion PGM™ system for use in human identity DNA typing.
Article in Croatian medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Article
- Next generation sequencing of Y-STRs in father-son pairs and comparison with traditional capillary electrophoresis.Forensic sciences research · 2022Article
- Simultaneous identification of animal-derived components in meats using high-throughput sequencing in combination with a custom-built mitochondrial genome database.Scientific reports · 2020Article
- Inter-laboratory study on standardized MPS libraries: evaluation of performance, concordance, and sensitivity using mixtures and degraded DNA.International journal of legal medicine · 2020Article
- Comparative tolerance of two massively parallel sequencing systems to common PCR inhibitors.International journal of legal medicine · 2018Article
- Increasing the reach of forensic genetics with massively parallel sequencing.Forensic science, medicine, and pathology · 2017Review
- Investigation of the STR loci noise distributions of PowerSeq™ Auto System.Croatian medical journal · 2017Article
- Comparison of Two Massively Parallel Sequencing Platforms using 83 Single Nucleotide Polymorphisms for Human Identification.Scientific reports · 2017Article
- A technique for setting analytical thresholds in massively parallel sequencing-based forensic DNA analysis.PloS one · 2017Article
- Qualitative and quantitative assessment of Illumina's forensic STR and SNP kits on MiSeq FGx™.PloS one · 2017Article
- More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing.BMC genomics · 2016Article
- Effects of the Ion PGM™ Hi-Q™ sequencing chemistry on sequence data quality.International journal of legal medicine · 2016Article
- Novel Y-chromosome Short Tandem Repeat Variants Detected Through the Use of Massively Parallel Sequencing.Genomics, proteomics & bioinformatics · 2015Article
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10 authors.
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Abstract
aimTo perform a blind study to assess the capability of the Ion Personal Genome Machine® (PGM™) system to sequence forensically relevant genetic marker panels and to characterize unknown individuals for ancestry and possible relatedness.
methodsTwelve genomic samples were provided by a third party for blinded genetic analysis. For these 12 samples, the mitochondrial genome and three PGM™ panels containing human identity single nucleotide polymorphisms (SNPs), ancestry informative SNPs, and short tandem repeats (STRs) were sequenced on the PGM™ system and analyzed.
resultsAll four genetic systems were run and analyzed on the PGM™ system in a reasonably quick time frame. Completeness of genetic profiles, depth of coverage, strand balance, and allele balance were informative metrics that illustrated the quality and reliability of the data produced. SNP genotypes allowed for identification of sex, paternal lineage, and population ancestry. STR genotypes were shown to be in complete concordance with genotypes generated by standard capillary electrophoresis-based technologies. Variants in the mitochondrial genome data provided information on population background and maternal relationships.
conclusionAll results from analysis of the 12 genomic samples were consistent with sample information provided by the sample providers at the end of the blinded study. The relatively easy identification of intra-STR allele SNPs offered the potential for increased discrimination power. The promising nature of these results warrants full validation studies of this massively parallel sequencing technology and its further development for forensic data analysis.
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